A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003643



Internal ID18746174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110091645..110226092hg38UCSC Ensembl
Innerchr2:110849222..110983669hg19UCSC Ensembl
Innerchr2:110206511..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38134448
hg19134448
hg18134448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4046n100
Supporting Variantsnssv3580186, nssv3580187
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003643
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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